Aliases for POTEF Gene

Aliases for POTEF Gene

  • POTE Ankyrin Domain Family Member F 2 3 4 5
  • ANKRD26-Like Family C Member 1B 3 4
  • Chimeric POTE-Actin Protein 3 4
  • POTE2alpha 2 3
  • A26C1B 3 4
  • Prostate, Ovary, Testis Expressed Protein On Chromosome 2 3
  • POTE Ankyrin Domain Family, Member F 2
  • ANKRD26-Like Family C, Member 1B 2
  • POTE-2 Alpha-Actin 3
  • Beta Actin 3
  • POTEF 5
  • ACTB 3

External Ids for POTEF Gene

Previous HGNC Symbols for POTEF Gene

  • A26C1B

Previous GeneCards Identifiers for POTEF Gene

  • GC02M130558
  • GC02M130831

Summaries for POTEF Gene

GeneCards Summary for POTEF Gene

POTEF (POTE Ankyrin Domain Family Member F) is a Protein Coding gene. Diseases associated with POTEF include Baraitser-Winter Syndrome and Retinitis Pigmentosa 23. An important paralog of this gene is POTEE.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POTEF Gene

Genomics for POTEF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POTEF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J130130 Promoter 1.1 EPDnew Ensembl 255.5 -0.5 -479 4.2 IKZF1 SAP130 THRB MLLT1 NFYC CTCF ARID4B ZNF512 MNT RNF2 POTEF MED15P9 lnc-MZT2B-1 MZT2B RAB6C-AS1 CCDC74B lnc-CCDC74B-1
GH02J130144 Promoter 1.5 EPDnew Ensembl CraniofacialAtlas 0.4 -15.4 -15379 2 ZNF341 ELF1 KLF9 SP2 SAP130 GABPB1 SIN3A ZNF146 ZBTB48 PKNOX1 CCDC74B lnc-CCDC74B-1 piR-54904-001 TUBA3E POTEF
GH02J130102 Enhancer 0.5 Ensembl 0.3 +26.2 26221 1.2 ZNF316 SOX5 MAFG MEIS2 PKNOX1 ESRRA MAFK SOX13 EMSY RAB6C-AS1 POTEF-AS1 piR-33172-004 HSALNG0018775 POTEF RAB6C
GH02J129979 Promoter 1.3 Ensembl CraniofacialAtlas 0.1 +149.2 149207 1.2 ZNF600 ATF2 ZNF341 ZNF217 ELF1 SP2 SIN3A ZNF2 SPI1 ZNF189 RAB6C-AS1 RAB6C PTPN18 POTEF
GH02J130036 Promoter 0.6 Ensembl 0.2 +92.2 92221 1.2 SIN3A CTCF ZNF687 KLF2P1 lnc-RAB6C-7 RAB6C-AS1 piR-36816-001 FAR2P1 ENSG00000286058 ENSG00000286026 RAB6C POTEF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POTEF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POTEF

Top Transcription factor binding sites by QIAGEN in the POTEF gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HSF1 (long)
  • HSF1short
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for POTEF Gene

Latest Assembly
55,688 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
55,688 bases
Minus strand

(GRCh37/hg19 by Ensembl)
55,688 bases
Minus strand

Genomic View for POTEF Gene

Genes around POTEF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POTEF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POTEF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POTEF Gene

Proteins for POTEF Gene

  • Protein details for POTEF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    POTE ankyrin domain family member F
    Protein Accession:
    Secondary Accessions:
    • A6NC34

    Protein attributes for POTEF Gene

    1075 amino acids
    Molecular mass:
    121445 Da
    Quaternary structure:
    No Data Available
    • Results from the insertion of a beta-actin fragment at the C-terminus in the POTEE paralog gene leading to the formation of a new functional chimeric protein. This insertion occured before the divergence of the Old World monkeys and apes.

neXtProt entry for POTEF Gene

Post-translational modifications for POTEF Gene

  • Ubiquitination at Lys114 and Lys116
  • Modification sites at PhosphoSitePlus

Other Protein References for POTEF Gene

No data available for DME Specific Peptides for POTEF Gene

Domains & Families for POTEF Gene

Gene Families for POTEF Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for POTEF Gene

GenScript: Design optimal peptide antigens:
  • Chimeric POTE-actin protein (POTEF_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the POTE family.
  • In the N-terminal section; belongs to the POTE family.
  • In the C-terminal section; belongs to the actin family.
genes like me logo Genes that share domains with POTEF: view

Function for POTEF Gene

Phenotypes From GWAS Catalog for POTEF Gene

Gene Ontology (GO) - Molecular Function for POTEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with POTEF: view

miRNA for POTEF Gene

miRTarBase miRNAs that target POTEF

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POTEF

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POTEF Gene

Localization for POTEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for POTEF Gene

Cytoplasm, cell cortex. Note=Colocalizes with actin filaments.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POTEF gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 4
cytoskeleton 3
mitochondrion 3
golgi apparatus 3
plasma membrane 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
lysosome 2

Gene Ontology (GO) - Cellular Components for POTEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005938 cell cortex IEA --
GO:0070062 extracellular exosome HDA 23533145
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with POTEF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POTEF Gene

Pathways & Interactions for POTEF Gene

PathCards logo

SuperPathways for POTEF Gene

No Data Available

Interacting Proteins for POTEF Gene

Gene Ontology (GO) - Biological Process for POTEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
genes like me logo Genes that share ontologies with POTEF: view

No data available for Pathways by source and SIGNOR curated interactions for POTEF Gene

Drugs & Compounds for POTEF Gene

No Compound Related Data Available

Transcripts for POTEF Gene

mRNA/cDNA for POTEF Gene

6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POTEF

Alternative Splicing Database (ASD) splice patterns (SP) for POTEF Gene

No ASD Table

Relevant External Links for POTEF Gene

GeneLoc Exon Structure for

Expression for POTEF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POTEF Gene

mRNA differential expression in normal tissues according to GTEx for POTEF Gene

This gene is overexpressed in Testis (x36.8).

Protein differential expression in normal tissues from HIPED for POTEF Gene

This gene is overexpressed in Saliva (23.1), Heart (15.8), Brain (12.5), and Skin (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POTEF Gene

Protein tissue co-expression partners for POTEF Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POTEF

SOURCE GeneReport for Unigene cluster for POTEF Gene:


mRNA Expression by UniProt/SwissProt for POTEF Gene:

Tissue specificity: Expressed in breast cancer cell lines (at protein level).

Evidence on tissue expression from TISSUES for POTEF Gene

  • Blood(2.9)
  • Nervous system(2.8)
  • Intestine(2.7)
  • Heart(2.7)
  • Liver(2.7)
  • Kidney(2.7)
  • Skin(2.7)
  • Muscle(2.5)
  • Lung(2.5)
  • Pancreas(2.5)
  • Bone marrow(2.4)
  • Spleen(2.4)
  • Lymph node(2.3)
  • Eye(2.2)
  • Thyroid gland(2.2)
  • Adrenal gland(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with POTEF: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for POTEF Gene

Orthologs for POTEF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POTEF Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia POTEF 29
  • 98.36 (n)
-- 30
  • 98 (a)
(Rattus norvegicus)
Mammalia LOC100361457 29
  • 85.24 (n)
(Canis familiaris)
Mammalia -- 30
  • 41 (a)
-- 30
  • 38 (a)
-- 30
  • 37 (a)
-- 30
  • 13 (a)
-- 30
  • 11 (a)
-- 30
  • 10 (a)
-- 30
  • 10 (a)
-- 30
  • 8 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 38 (a)
(Mus musculus)
Mammalia Poteg 30
  • 23 (a)
(Bos Taurus)
Mammalia -- 30
  • 10 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 8 (a)
(Gallus gallus)
Aves ACTBL2 29
  • 74.6 (n)
-- 30
  • 12 (a)
(Anolis carolinensis)
Reptilia -- 30
  • 37 (a)
(Danio rerio)
Actinopterygii zgc:86725 29
  • 78.43 (n)
  • 8 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta Act88F 29
  • 82.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001676 29
  • 77.99 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ACT1 29
  • 72.74 (n)
(Oryza sativa)
Liliopsida Os03g0836000 29
  • 73.1 (n)
Species where no ortholog for POTEF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POTEF Gene

Gene Tree for POTEF (if available)
Gene Tree for POTEF (if available)
Evolutionary constrained regions (ECRs) for POTEF: view image
Alliance of Genome Resources:
Additional Orthologs for POTEF

Paralogs for POTEF Gene

Variants for POTEF Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POTEF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POTEF Gene

Variant ID Type Subtype PubMed ID
dgv1169e212 CNV loss 25503493
dgv2032n106 OTHER inversion 24896259
dgv4072n100 CNV loss 25217958
dgv4073n100 CNV gain 25217958
esv2751826 CNV gain 17911159
esv2759092 CNV gain+loss 17122850
esv2760631 CNV gain+loss 21179565
esv2763387 CNV loss 21179565
esv3584061 CNV loss 25503493
esv3584065 CNV loss 25503493
esv3584069 CNV loss 25503493
esv3592438 CNV loss 21293372
esv3592439 CNV gain 21293372
esv3893326 CNV gain 25118596
nsv1001337 CNV loss 25217958
nsv1008911 CNV gain 25217958
nsv1011360 CNV loss 25217958
nsv10160 CNV gain+loss 18304495
nsv10163 CNV loss 18304495
nsv10164 CNV loss 18304495
nsv428403 CNV loss 18775914
nsv459274 CNV loss 19166990
nsv583046 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv821629 CNV loss 15273396
nsv834374 CNV gain 17160897
nsv834375 CNV loss 17160897
nsv953161 CNV deletion 24416366
nsv961881 CNV duplication 23825009
nsv961882 CNV duplication 23825009
nsv962004 CNV duplication 23825009
nsv962005 CNV duplication 23825009
nsv998333 CNV gain+loss 25217958

Variation tolerance for POTEF Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.24; 76.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POTEF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POTEF Gene

Disorders for POTEF Gene

MalaCards: The human disease database

(8) MalaCards diseases for POTEF Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search POTEF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POTEF

genes like me logo Genes that share disorders with POTEF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POTEF Gene

Publications for POTEF Gene

  1. Evolution and expression of chimeric POTE-actin genes in the human genome. (PMID: 17101985) Lee Y … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  4. CCT3 acts upstream of YAP and TFCP2 as a potential target and tumour biomarker in liver cancer. (PMID: 31501420) Liu Y … Sun F (Cell death & disease 2019) 3
  5. Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis. (PMID: 31796584) Zang W … Zheng X (Proceedings of the National Academy of Sciences of the United States of America 2019) 3

Products for POTEF Gene

Sources for POTEF Gene